Incidental Mutation 'R5582:Usp13'
ID |
438491 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp13
|
Ensembl Gene |
ENSMUSG00000056900 |
Gene Name |
ubiquitin specific peptidase 13 (isopeptidase T-3) |
Synonyms |
2700071E21Rik, IsoT-3, ISOT3 |
MMRRC Submission |
043136-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5582 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
32871695-32992220 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32965738 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 574
(S574P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072155
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072312]
[ENSMUST00000108228]
[ENSMUST00000172481]
|
AlphaFold |
Q5BKP2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072312
AA Change: S574P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000072155 Gene: ENSMUSG00000056900 AA Change: S574P
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
Blast:ZnF_UBP
|
46 |
91 |
1e-17 |
BLAST |
low complexity region
|
116 |
134 |
N/A |
INTRINSIC |
ZnF_UBP
|
208 |
263 |
2.91e-20 |
SMART |
low complexity region
|
625 |
639 |
N/A |
INTRINSIC |
UBA
|
652 |
690 |
1.25e-6 |
SMART |
UBA
|
724 |
761 |
1.19e-12 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108228
AA Change: S573P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103863 Gene: ENSMUSG00000056900 AA Change: S573P
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
Blast:ZnF_UBP
|
46 |
91 |
1e-17 |
BLAST |
low complexity region
|
115 |
133 |
N/A |
INTRINSIC |
ZnF_UBP
|
207 |
262 |
2.91e-20 |
SMART |
low complexity region
|
624 |
638 |
N/A |
INTRINSIC |
UBA
|
651 |
689 |
1.25e-6 |
SMART |
UBA
|
723 |
760 |
1.19e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156769
|
SMART Domains |
Protein: ENSMUSP00000117605 Gene: ENSMUSG00000056900
Domain | Start | End | E-Value | Type |
UBA
|
9 |
47 |
1.25e-6 |
SMART |
UBA
|
81 |
118 |
1.19e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172481
|
SMART Domains |
Protein: ENSMUSP00000133823 Gene: ENSMUSG00000056900
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
Blast:ZnF_UBP
|
46 |
91 |
9e-18 |
BLAST |
low complexity region
|
116 |
134 |
N/A |
INTRINSIC |
ZnF_UBP
|
208 |
263 |
2.91e-20 |
SMART |
Pfam:UCH
|
333 |
523 |
5.1e-27 |
PFAM |
|
Meta Mutation Damage Score |
0.6358 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
Validation Efficiency |
98% (61/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
C |
11: 9,586,639 (GRCm39) |
|
probably null |
Het |
Agxt2 |
A |
G |
15: 10,399,245 (GRCm39) |
D444G |
probably damaging |
Het |
Aldh1b1 |
G |
T |
4: 45,802,750 (GRCm39) |
R96L |
probably damaging |
Het |
Ank2 |
T |
C |
3: 126,739,954 (GRCm39) |
|
probably benign |
Het |
Apob |
A |
G |
12: 8,060,788 (GRCm39) |
Y3090C |
probably damaging |
Het |
Bbx |
A |
G |
16: 50,043,719 (GRCm39) |
S647P |
probably damaging |
Het |
Brinp2 |
T |
C |
1: 158,076,979 (GRCm39) |
Y372C |
probably damaging |
Het |
Btaf1 |
T |
C |
19: 36,965,573 (GRCm39) |
|
probably null |
Het |
Cdk5rap1 |
T |
A |
2: 154,187,894 (GRCm39) |
E477D |
probably benign |
Het |
Cfap65 |
G |
A |
1: 74,946,677 (GRCm39) |
|
probably benign |
Het |
Chdh |
A |
G |
14: 29,758,816 (GRCm39) |
Y587C |
probably damaging |
Het |
Chek2 |
T |
C |
5: 111,015,901 (GRCm39) |
V472A |
probably damaging |
Het |
Clasrp |
A |
C |
7: 19,320,781 (GRCm39) |
I326S |
probably damaging |
Het |
Clic6 |
A |
T |
16: 92,296,342 (GRCm39) |
Q334L |
possibly damaging |
Het |
Cyp2d11 |
A |
T |
15: 82,276,319 (GRCm39) |
|
probably null |
Het |
Entpd7 |
T |
C |
19: 43,693,433 (GRCm39) |
I171T |
probably damaging |
Het |
Fosl1 |
T |
C |
19: 5,505,295 (GRCm39) |
|
probably benign |
Het |
Gm6124 |
A |
G |
7: 38,869,622 (GRCm39) |
|
noncoding transcript |
Het |
H3f3a |
A |
T |
1: 180,637,650 (GRCm39) |
|
probably benign |
Het |
Hs1bp3 |
AGAGGAGGAGGAGGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGGAGGAGGAGGAGG |
12: 8,374,048 (GRCm39) |
|
probably benign |
Het |
Idh2 |
CCAGGGC |
CC |
7: 79,748,087 (GRCm39) |
|
probably null |
Het |
Igkv3-7 |
A |
G |
6: 70,584,990 (GRCm39) |
Y110C |
probably damaging |
Het |
Ints9 |
C |
T |
14: 65,266,345 (GRCm39) |
T399M |
possibly damaging |
Het |
Kctd19 |
G |
A |
8: 106,135,075 (GRCm39) |
T62M |
probably damaging |
Het |
Lsmem1 |
A |
G |
12: 40,230,643 (GRCm39) |
|
probably null |
Het |
Obscn |
T |
C |
11: 58,990,802 (GRCm39) |
|
probably null |
Het |
Or11h23 |
T |
C |
14: 50,948,425 (GRCm39) |
Y213H |
probably damaging |
Het |
Or1j12 |
T |
C |
2: 36,343,233 (GRCm39) |
I212T |
probably benign |
Het |
Otop3 |
T |
A |
11: 115,230,165 (GRCm39) |
M14K |
unknown |
Het |
Pibf1 |
C |
T |
14: 99,374,566 (GRCm39) |
A335V |
possibly damaging |
Het |
Pkd1l2 |
A |
T |
8: 117,767,522 (GRCm39) |
L1256* |
probably null |
Het |
Plbd2 |
T |
C |
5: 120,631,171 (GRCm39) |
E202G |
probably benign |
Het |
Ppp1r37 |
A |
G |
7: 19,266,219 (GRCm39) |
S516P |
probably damaging |
Het |
Ppt2 |
G |
A |
17: 34,836,373 (GRCm39) |
T229M |
probably damaging |
Het |
Prr14 |
A |
T |
7: 127,075,569 (GRCm39) |
I526F |
probably damaging |
Het |
Scel |
T |
C |
14: 103,820,575 (GRCm39) |
|
probably benign |
Het |
Scn9a |
A |
T |
2: 66,395,373 (GRCm39) |
|
probably benign |
Het |
Senp6 |
T |
A |
9: 79,997,158 (GRCm39) |
D57E |
possibly damaging |
Het |
Setd5 |
T |
C |
6: 113,091,886 (GRCm39) |
Y217H |
probably damaging |
Het |
Sgcg |
T |
C |
14: 61,462,754 (GRCm39) |
T198A |
probably damaging |
Het |
Sipa1 |
C |
T |
19: 5,704,729 (GRCm39) |
G622D |
probably benign |
Het |
Slc27a2 |
C |
T |
2: 126,406,610 (GRCm39) |
A98V |
probably damaging |
Het |
Slitrk3 |
G |
T |
3: 72,957,737 (GRCm39) |
P345Q |
probably benign |
Het |
Slx4 |
T |
C |
16: 3,803,652 (GRCm39) |
D1054G |
possibly damaging |
Het |
Sned1 |
A |
T |
1: 93,210,083 (GRCm39) |
T898S |
probably damaging |
Het |
Tg |
C |
T |
15: 66,565,284 (GRCm39) |
P1209S |
probably damaging |
Het |
Tmem63b |
C |
A |
17: 45,978,689 (GRCm39) |
V294L |
probably benign |
Het |
Tnks |
G |
A |
8: 35,408,015 (GRCm39) |
R238C |
probably benign |
Het |
Tsn |
G |
A |
1: 118,232,944 (GRCm39) |
T120I |
probably damaging |
Het |
Txnrd1 |
T |
A |
10: 82,731,814 (GRCm39) |
F479I |
possibly damaging |
Het |
Ubr1 |
T |
C |
2: 120,745,888 (GRCm39) |
M849V |
probably benign |
Het |
Vmn1r69 |
A |
G |
7: 10,314,435 (GRCm39) |
Y20H |
probably damaging |
Het |
Zfp1001 |
T |
C |
2: 150,204,972 (GRCm39) |
|
probably benign |
Het |
Zfp780b |
T |
A |
7: 27,664,252 (GRCm39) |
N101I |
probably damaging |
Het |
|
Other mutations in Usp13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00499:Usp13
|
APN |
3 |
32,935,560 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL00949:Usp13
|
APN |
3 |
32,940,726 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL01637:Usp13
|
APN |
3 |
32,973,213 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01983:Usp13
|
APN |
3 |
32,971,608 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02002:Usp13
|
APN |
3 |
32,901,974 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02065:Usp13
|
APN |
3 |
32,987,314 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02390:Usp13
|
APN |
3 |
32,985,865 (GRCm39) |
nonsense |
probably null |
|
IGL02399:Usp13
|
APN |
3 |
32,973,209 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02535:Usp13
|
APN |
3 |
32,892,075 (GRCm39) |
missense |
probably benign |
0.43 |
IGL02863:Usp13
|
APN |
3 |
32,973,096 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL03017:Usp13
|
APN |
3 |
32,969,861 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL03242:Usp13
|
APN |
3 |
32,956,218 (GRCm39) |
missense |
probably benign |
0.17 |
PIT4504001:Usp13
|
UTSW |
3 |
32,959,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R0113:Usp13
|
UTSW |
3 |
32,872,025 (GRCm39) |
splice site |
probably benign |
|
R0233:Usp13
|
UTSW |
3 |
32,969,813 (GRCm39) |
splice site |
probably null |
|
R0233:Usp13
|
UTSW |
3 |
32,969,813 (GRCm39) |
splice site |
probably null |
|
R1241:Usp13
|
UTSW |
3 |
32,969,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R1765:Usp13
|
UTSW |
3 |
32,969,919 (GRCm39) |
missense |
probably benign |
0.01 |
R2105:Usp13
|
UTSW |
3 |
32,956,135 (GRCm39) |
missense |
probably damaging |
0.97 |
R2229:Usp13
|
UTSW |
3 |
32,971,700 (GRCm39) |
missense |
probably benign |
0.02 |
R2381:Usp13
|
UTSW |
3 |
32,935,658 (GRCm39) |
critical splice donor site |
probably null |
|
R2389:Usp13
|
UTSW |
3 |
32,959,613 (GRCm39) |
missense |
probably benign |
0.16 |
R3801:Usp13
|
UTSW |
3 |
32,935,657 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4062:Usp13
|
UTSW |
3 |
32,935,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R4653:Usp13
|
UTSW |
3 |
32,892,073 (GRCm39) |
missense |
probably damaging |
0.99 |
R5123:Usp13
|
UTSW |
3 |
32,969,947 (GRCm39) |
missense |
probably benign |
0.03 |
R5454:Usp13
|
UTSW |
3 |
32,959,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R5527:Usp13
|
UTSW |
3 |
32,919,987 (GRCm39) |
missense |
probably damaging |
1.00 |
R5589:Usp13
|
UTSW |
3 |
32,892,007 (GRCm39) |
missense |
probably damaging |
1.00 |
R5829:Usp13
|
UTSW |
3 |
32,940,672 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6114:Usp13
|
UTSW |
3 |
32,908,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R6625:Usp13
|
UTSW |
3 |
32,949,025 (GRCm39) |
missense |
probably damaging |
0.98 |
R6680:Usp13
|
UTSW |
3 |
32,935,618 (GRCm39) |
missense |
probably damaging |
0.98 |
R7175:Usp13
|
UTSW |
3 |
32,971,757 (GRCm39) |
nonsense |
probably null |
|
R7232:Usp13
|
UTSW |
3 |
32,920,020 (GRCm39) |
missense |
probably benign |
0.05 |
R7242:Usp13
|
UTSW |
3 |
32,919,892 (GRCm39) |
splice site |
probably null |
|
R7263:Usp13
|
UTSW |
3 |
32,949,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R7533:Usp13
|
UTSW |
3 |
32,973,091 (GRCm39) |
missense |
probably damaging |
0.99 |
R7716:Usp13
|
UTSW |
3 |
32,892,005 (GRCm39) |
nonsense |
probably null |
|
R7734:Usp13
|
UTSW |
3 |
32,892,054 (GRCm39) |
missense |
probably benign |
0.13 |
R7943:Usp13
|
UTSW |
3 |
32,931,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R8075:Usp13
|
UTSW |
3 |
32,985,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R8141:Usp13
|
UTSW |
3 |
32,949,025 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8259:Usp13
|
UTSW |
3 |
32,971,748 (GRCm39) |
nonsense |
probably null |
|
R8722:Usp13
|
UTSW |
3 |
32,956,114 (GRCm39) |
missense |
probably benign |
0.00 |
R8905:Usp13
|
UTSW |
3 |
32,935,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R9060:Usp13
|
UTSW |
3 |
32,965,812 (GRCm39) |
critical splice donor site |
probably null |
|
R9081:Usp13
|
UTSW |
3 |
32,935,542 (GRCm39) |
missense |
probably benign |
0.00 |
R9260:Usp13
|
UTSW |
3 |
32,955,909 (GRCm39) |
intron |
probably benign |
|
R9576:Usp13
|
UTSW |
3 |
32,969,135 (GRCm39) |
critical splice acceptor site |
probably null |
|
X0064:Usp13
|
UTSW |
3 |
32,940,738 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CATTTTCTGCGGCAGAGAAGC -3'
(R):5'- TCTGGGTCCAGAGAAACCTG -3'
Sequencing Primer
(F):5'- TGGAGCGAGTGTGCGAGTAC -3'
(R):5'- CCTGGGAGTAACAGAGGAAAC -3'
|
Posted On |
2016-10-26 |